LCH
MCID: LSS024
MIFTS: 36

Lissencephaly with Cerebellar Hypoplasia (LCH)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lissencephaly with Cerebellar Hypoplasia

MalaCards integrated aliases for Lissencephaly with Cerebellar Hypoplasia:

Name: Lissencephaly with Cerebellar Hypoplasia 43 58
Lissencephaly Syndrome, Norman-Roberts Type 43 70
Lissencephaly 3 43 70
Lch 43 58
Norman-Roberts Syndrome 43
Lissencephaly 2 43
Lis2 43
Lis3 43

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA86823
UMLS 70 C0796089 C1969029

Summaries for Lissencephaly with Cerebellar Hypoplasia

MedlinePlus Genetics : 43 Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem).Individuals with LCH have moderate to severe intellectual disability and delayed development. They have few or no communication skills, extremely poor muscle tone (hypotonia), problems with coordination and balance (ataxia), and difficulty sitting or standing without support. Most affected children experience recurrent seizures (epilepsy) that begin within the first months of life. Some affected individuals have nearsightedness (myopia), involuntary eye movements (nystagmus), or puffiness or swelling caused by a buildup of fluids in the body's tissues (lymphedema).

MalaCards based summary : Lissencephaly with Cerebellar Hypoplasia, also known as lissencephaly syndrome, norman-roberts type, is related to lissencephaly 2 and lissencephaly 1, and has symptoms including seizures and ataxia. An important gene associated with Lissencephaly with Cerebellar Hypoplasia is RELN (Reelin), and among its related pathways/superpathways are Neuroscience and Spinocerebellar ataxia. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are behavior/neurological and cellular

Related Diseases for Lissencephaly with Cerebellar Hypoplasia

Diseases in the Lissencephaly with Cerebellar Hypoplasia family:

Lissencephaly 7 with Cerebellar Hypoplasia Lissencephaly with Cerebellar Hypoplasia Type F
Lissencephaly with Cerebellar Hypoplasia Type E Lissencephaly with Cerebellar Hypoplasia Type B
Lissencephaly with Cerebellar Hypoplasia Type a Lissencephaly with Cerebellar Hypoplasia Type D
Lissencephaly with Cerebellar Hypoplasia Type C

Diseases related to Lissencephaly with Cerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 2 31.2 VLDLR RELN PAFAH1B1 LRP8 ARX
2 lissencephaly 1 30.5 RELN PAFAH1B1 DCX
3 pachygyria 30.4 PAFAH1B1 DCX
4 neuronal migration disorders 29.8 RELN PAFAH1B1 DCX ARX
5 cerebellar hypoplasia 29.8 VLDLR RELN PAFAH1B1 LRP8 DCX CDK5
6 miller-dieker lissencephaly syndrome 29.5 VLDLR RELN PAFAH1B1 DCX ARX
7 lissencephaly 28.5 VLDLR TSC2 RELN PAFAH1B1 LRP8 DCX
8 langerhans cell histiocytosis 11.7
9 lissencephaly 3 11.6
10 leydig cell hypoplasia 11.5
11 lissencephaly, x-linked, 2 11.5
12 lissencephaly with cerebellar hypoplasia type f 11.3
13 lissencephaly with cerebellar hypoplasia type e 11.3
14 lissencephaly with cerebellar hypoplasia type b 11.3
15 lissencephaly with cerebellar hypoplasia type a 11.3
16 lissencephaly with cerebellar hypoplasia type d 11.3
17 lissencephaly with cerebellar hypoplasia type c 11.3
18 histiocytosis 11.1
19 letterer-siwe disease 11.1
20 leydig cell hypoplasia, type i 10.9
21 hashimoto-pritzker syndrome 10.9
22 roberts-sc phocomelia syndrome 10.5
23 microcephaly 10.4
24 diabetes insipidus 10.3
25 polymicrogyria with optic nerve hypoplasia 10.2 PAFAH1B1 DCX
26 chromosome 17p13.3, centromeric, duplication syndrome 10.2 PAFAH1B1 DCX
27 epilepsy, familial temporal lobe, 7 10.1 RELN DAB1
28 corpus callosum, agenesis of 10.1
29 microlissencephaly 10.1
30 heart septal defect 10.1
31 atrial heart septal defect 10.1
32 colpocephaly 10.1
33 hypertonia 10.1
34 metachromatic leukodystrophy 10.1
35 pelizaeus-merzbacher disease 10.1
36 lissencephaly 7 with cerebellar hypoplasia 10.1
37 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
38 hereditary lymphedema i 10.1
39 tubulinopathy 10.1
40 leukodystrophy 10.1
41 autosomal dominant epilepsy with auditory features 10.1
42 dcx-related disorders 10.1
43 infancy electroclinical syndrome 10.1 PAFAH1B1 ARX
44 physical disorder 10.0 RELN PAFAH1B1 DCX
45 exanthem 10.0
46 bone disease 10.0
47 cholangitis 10.0
48 dyslexia 10.0 RELN DCX CDK5
49 lissencephaly, x-linked, 1 10.0 PAFAH1B1 DCX ARX
50 donnai-barrow syndrome 9.9 VLDLR LRP8

Graphical network of the top 20 diseases related to Lissencephaly with Cerebellar Hypoplasia:



Diseases related to Lissencephaly with Cerebellar Hypoplasia

Symptoms & Phenotypes for Lissencephaly with Cerebellar Hypoplasia

UMLS symptoms related to Lissencephaly with Cerebellar Hypoplasia:


seizures; ataxia

MGI Mouse Phenotypes related to Lissencephaly with Cerebellar Hypoplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ARX CDK5 DAB1 DCX LRP8 PAFAH1B1
2 cellular MP:0005384 9.97 ARX DAB1 LRP8 PAFAH1B1 RELN TSC1
3 growth/size/body region MP:0005378 9.97 ARX DAB1 DCX LRP8 PAFAH1B1 RELN
4 mortality/aging MP:0010768 9.85 ARX CDK5 DAB1 DCX LRP8 PAFAH1B1
5 integument MP:0010771 9.73 ARX CDK5 RELN TSC1 TSC2 VLDLR
6 nervous system MP:0003631 9.65 ARX CDK5 DAB1 DCX LRP8 PAFAH1B1
7 reproductive system MP:0005389 9.28 ARX DAB1 DCX LRP8 PAFAH1B1 RELN

Drugs & Therapeutics for Lissencephaly with Cerebellar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Lissencephaly with Cerebellar Hypoplasia

Genetic Tests for Lissencephaly with Cerebellar Hypoplasia

Anatomical Context for Lissencephaly with Cerebellar Hypoplasia

MalaCards organs/tissues related to Lissencephaly with Cerebellar Hypoplasia:

40
Brain, Eye, Spinal Cord, Cortex, Cerebellum

Publications for Lissencephaly with Cerebellar Hypoplasia

Articles related to Lissencephaly with Cerebellar Hypoplasia:

(show all 30)
# Title Authors PMID Year
1
Tubulinopathies Overview 61
27010057 2016
2
RELN Mutations in Autism Spectrum Disorder. 61
27064498 2016
3
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. 61
26046367 2015
4
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 61
25560765 2015
5
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 61
25609191 2015
6
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. 61
26052266 2015
7
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs. 61
23938146 2013
8
Challenges of diagnostic exome sequencing in an inbred founder population. 61
24498604 2013
9
Diffuse malformations of cortical development. 61
23622213 2013
10
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. 61
24260534 2013
11
[Analysis of the clinical manifestations and magnetic resonance imaging features of 11 patients with lissencephaly]. 61
21421488 2011
12
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. 61
20466733 2010
13
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. 61
20376468 2010
14
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]. 61
18808783 2008
15
Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia. 61
18521588 2008
16
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 61
17664403 2007
17
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. 61
17431900 2007
18
The role of RELN in lissencephaly and neuropsychiatric disease. 61
16958033 2007
19
Genetic malformations of cortical development. 61
16724181 2006
20
Neuronal migration disorders, genetics, and epileptogenesis. 61
15921228 2005
21
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. 61
15794192 2005
22
Genetic malformations of the cerebral cortex and epilepsy. 61
15816977 2005
23
Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. 61
14566414 2004
24
Reelin-immunoreactive neurons, axons, and neuropil in the adult ferret brain: evidence for axonal secretion of reelin in long axonal pathways. 61
12811805 2003
25
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. 61
12185771 2002
26
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. 61
11748497 2001
27
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. 61
11749114 2001
28
Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria. 61
11408330 2001
29
Epilepsy and genetic malformations of the cerebral cortex. 61
11579436 2001
30
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 61
10973257 2000

Variations for Lissencephaly with Cerebellar Hypoplasia

Expression for Lissencephaly with Cerebellar Hypoplasia

Search GEO for disease gene expression data for Lissencephaly with Cerebellar Hypoplasia.

Pathways for Lissencephaly with Cerebellar Hypoplasia

GO Terms for Lissencephaly with Cerebellar Hypoplasia

Cellular components related to Lissencephaly with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.71 TSC2 TSC1 PAFAH1B1 DAB1
2 neuronal cell body GO:0043025 9.62 PAFAH1B1 LRP8 DAB1 CDK5
3 neuron projection GO:0043005 9.55 RELN PAFAH1B1 DCX DAB1 CDK5
4 growth cone GO:0030426 9.54 TSC1 PAFAH1B1 CDK5
5 microtubule associated complex GO:0005875 9.43 PAFAH1B1 LRP8 DCX
6 postsynaptic density GO:0014069 9.02 TSC2 TSC1 LRP8 DAB1 CDK5
7 TSC1-TSC2 complex GO:0033596 8.96 TSC2 TSC1

Biological processes related to Lissencephaly with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.98 RELN PAFAH1B1 DCX DAB1 ARX
2 nervous system development GO:0007399 9.98 VLDLR TSC1 PAFAH1B1 DCX DAB1 CDK5
3 brain development GO:0007420 9.84 RELN PAFAH1B1 DCX DAB1
4 axon guidance GO:0007411 9.83 VLDLR RELN DAB1 ARX
5 cell migration GO:0016477 9.82 RELN PAFAH1B1 CDK5
6 chemical synaptic transmission GO:0007268 9.81 PAFAH1B1 LRP8 CDK5
7 positive regulation of protein kinase activity GO:0045860 9.8 VLDLR RELN LRP8 DAB1 CDK5
8 endocytosis GO:0006897 9.79 VLDLR TSC2 LRP8
9 dendrite morphogenesis GO:0048813 9.76 VLDLR LRP8 DCX CDK5
10 neuron migration GO:0001764 9.73 RELN PAFAH1B1 DCX DAB1 CDK5 ARX
11 forebrain development GO:0030900 9.72 RELN CDK5 ARX
12 reelin-mediated signaling pathway GO:0038026 9.67 VLDLR RELN PAFAH1B1 LRP8
13 adult locomotory behavior GO:0008344 9.65 TSC1 PAFAH1B1
14 positive regulation of dendritic spine morphogenesis GO:0061003 9.65 RELN PAFAH1B1 LRP8
15 positive regulation of protein tyrosine kinase activity GO:0061098 9.64 RELN LRP8
16 dendrite development GO:0016358 9.63 RELN DAB1
17 cerebral cortex development GO:0021987 9.63 TSC1 RELN PAFAH1B1 LRP8 DAB1 CDK5
18 negative regulation of insulin receptor signaling pathway GO:0046627 9.62 TSC2 TSC1
19 ventral spinal cord development GO:0021517 9.62 VLDLR RELN LRP8 DAB1
20 negative regulation of TOR signaling GO:0032007 9.61 TSC2 TSC1
21 positive regulation of macroautophagy GO:0016239 9.61 TSC2 TSC1
22 associative learning GO:0008306 9.6 RELN CDK5
23 axon extension GO:0048675 9.59 DCX CDK5
24 positive regulation of CREB transcription factor activity GO:0032793 9.58 RELN LRP8
25 positive regulation of dendrite development GO:1900006 9.57 VLDLR LRP8
26 protein localization to synapse GO:0035418 9.56 RELN CDK5
27 cerebral cortex tangential migration GO:0021800 9.51 RELN ARX
28 lateral motor column neuron migration GO:0097477 9.49 RELN DAB1
29 layer formation in cerebral cortex GO:0021819 9.35 RELN PAFAH1B1 LRP8 DCX CDK5
30 hippocampus development GO:0021766 9.17 TSC1 RELN PAFAH1B1 LRP8 DCX DAB1

Molecular functions related to Lissencephaly with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.58 PAFAH1B1 DCX CDK5
2 apolipoprotein binding GO:0034185 9.37 VLDLR LRP8
3 cargo receptor activity GO:0038024 9.32 VLDLR LRP8
4 low-density lipoprotein particle receptor activity GO:0005041 9.26 VLDLR LRP8
5 very-low-density lipoprotein particle receptor activity GO:0030229 9.16 VLDLR LRP8
6 Hsp90 protein binding GO:0051879 9.13 TSC2 TSC1 CDK5
7 reelin receptor activity GO:0038025 8.62 VLDLR LRP8

Sources for Lissencephaly with Cerebellar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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